日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Clinical and immunological spectrum of MHC class I deficiency: insights from a long-term cohort with two novel mutations

MHC I 类缺陷的临床和免疫学谱:来自一项包含两种新突变的长期队列研究的启示

Haskologlu, Sule; Ikinciogullari, Aydan; Islamoglu, Candan; Bal, Sevgi Kostel; Bayrakoglu, Deniz; Erdem, Serife; Karahan, Zeynep Ceren; Ardeniz, Omur; Aytekin, Caner; Heper, Aylin; Ceylaner, Serdar; Dogu, Figen

Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion

雷帕霉素控制淋巴细胞增殖并逆转患有新型 STIM1 功能丧失缺失的患者的 T 细胞反应

Ibrahim Serhat Karakus, Mehmet Cihangir Catak, Alexandra Frohne, Feyza Bayram Catak, Melek Yorgun Altunbas, Royala Babayeva, Sevgi Kostel Bal, Sevgi Bilgic Eltan, Ezgi Yalcin Gungoren, Fehim Esen, Itir Ebru Zemheri, Elif Karakoc-Aydiner, Ahmet Ozen, Suar Caki-Kilic, Michael J Kraakman, Kaan Boztug, 

Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis

双等位基因 NFATC1 突变会导致先天性免疫缺陷,导致 CD8+ T 细胞功能受损和糖酵解紊乱

Sevgi Kostel Bal, Sarah Giuliani, Jana Block, Peter Repiscak, Christoph Hafemeister, Tala Shahin, Nurhan Kasap, Bernhard Ransmayr, Yirun Miao, Cheryl van de Wetering, Alexandra Frohne, Raul Jimenez Heredia, Michael Schuster, Samaneh Zoghi, Vanessa Hertlein, Marini Thian, Aleksandr Bykov, Royala Baba

The Urinary Proteomic Profile Implicates Key Regulators for Urologic Chronic Pelvic Pain Syndrome (UCPPS): A MAPP Research Network Study

尿液蛋白质组学分析揭示泌尿系统慢性盆腔疼痛综合征(UCPPS)的关键调控因子:一项MAPP研究网络研究

Froehlich, John W; Wang, Hsin-Hsaio Scott; Logvinenko, Tanya; Kostel, Stephen; DiMartino, Shannon; van Bokhoven, Adrie; Moses, Marsha A; Lee, Richard S

Alterations in insulin-like growth factor system in spinal muscular atrophy

脊髓性肌萎缩症中胰岛素样生长因子系统的改变

Ayse Yesbek Kaymaz, Sevgi Kostel Bal, Gamze Bora, Beril Talim, Alev Ozon, Ayfer Alikasifoglu, Haluk Topaloglu, Hayat Erdem Yurter

Association between urinary biomarkers MMP-7/TIMP-2 and reduced renal function in children with ureteropelvic junction obstruction.

尿液生物标志物 MMP-7/TIMP-2 与输尿管肾盂连接处梗阻患儿肾功能下降之间的关联

Wang Hsin-Hsiao S, Cho Patricia S, Zhi Hui, Kostel Stephen A, DiMartino Shannon, Dagher Adelle M, Davis Kylie H, Cabour Lily D, Shimmel Ashley, Lee James, Froehlich John W, Zurakowski David, Moses Marsha A, Lee Richard S

Characterizing Patients with Recurrent Urinary Tract Infections in Vesicoureteral Reflux: A Pilot Study of the Urinary Proteome

膀胱输尿管反流复发性尿路感染患者的特征:尿液蛋白质组的初步研究

Dijana Vitko, Patricia S Cho, Stephen A Kostel, Shannon E DiMartino, Lily D Cabour, Matthew A Migliozzi, Tanya Logvinenko, Peter G Warren, John W Froehlich, Richard S Lee

Clinical Features and Outcomes of 23 Patients with Wiskott-Aldrich Syndrome: A Single-Center Experience

23 例 Wiskott-Aldrich 综合征患者的临床特征和结果:单中心经验

Şule Haskoloğlu, Ayşenur Öztürk, Gökcan Öztürk, Sevgi Kostel Bal, Candan İslamoğlu, Kübra Baskın, Serdar Ceylaner, Lale Tufan Satıroğlu, Figen Doğu, Aydan İkincioğulları

Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency

患有遗传性 CD70 缺陷的人的联合免疫缺陷和 Epstein-Barr 病毒诱发的 B 细胞恶性肿瘤

Hassan Abolhassani, Emily S J Edwards, Aydan Ikinciogullari, Huie Jing, Stephan Borte, Marcus Buggert, Likun Du, Mami Matsuda-Lennikov, Rosa Romano, Rozina Caridha, Sangeeta Bade, Yu Zhang, Juliet Frederiksen, Mingyan Fang, Sevgi Kostel Bal, Sule Haskologlu, Figen Dogu, Nurdan Tacyildiz, Helen F Mat

Multiple Presentations of LRBA Deficiency: a Single-Center Experience

LRBA 缺陷的多种表现:单中心经验

Sevgi Kostel Bal, Sule Haskologlu, Nina K Serwas, Candan Islamoglu, Caner Aytekin, Tanil Kendirli, Zarife Kuloglu, Gulsan Yavuz, Buket Dalgic, Zeynep Siklar, Aydan Kansu, Arzu Ensari, Kaan Boztug, Figen Dogu, Aydan Ikinciogullari